Email this article 
CASE OF COMBINATION OF BECKWITH-WIEDEMANN SYNDROME WITH WEST SYNDROME
- Authors: Kuzenkova L.M.1, Kremenchugskaya M.R.2, Globa O.V.1, Podkletnova T.V.1
-
Affiliations:
- Scientific Centre of Children Health, Moscow, Russian Federation
- Scientific Centre of Children Health, Moscow, Russian Federation St. Luka's Institute of Child Neurology and Epilepsy, Moscow, Russian Federation
- Issue: Vol 69, No 9-10 (2014)
- Pages: 64-69
- Section: PEDIATRICS: CURRENT ISSUES
- URL: https://vestnikramn.spr-journal.ru/jour/article/view/390
- DOI: https://doi.org/10.15690/vramn.v69i9-10.1133
- ID: 390
Cite item
Full Text
Abstract
Beckwith–Wiedemann syndrome (BWS) is etiologically connected with genetic / epigenetic growth dysregulation. The supposed localization of this disorder is a short arm of chromosome 11 (11p 15.5). Its prevalence is 1:13 per 700 newborns. West syndrome is an age-dependent epileptic syndrome related to a group of infantile epileptic encephalopathies and characterized by a triad of basic symptoms: series of infantile spasms, psychomotor retardation and severe paroxysmal EEG changes. The incidence of West syndrome is estimated at 1 case per 2,000–4,000 newborns. The article describes a rare clinical case: a combination of BWS with one of the types of infantile epileptic encephalopathies — West syndrome. A detailed analysis of the West syndrome progression in a female patient with BWS is given, the tactics of antiepileptic therapy is analyzed, and its complexity in terms of metabolic disorders caused by the presence of a genetic syndrome in a patient is shown. The results of a long catamnesis are described. The figures are the fragments of native electroencephalograms at the eruptive phase of West syndrome and against the background of a long-term remission. When describing the clinical case in detail, the authors actively discuss the obtained information and available literature data. The article also presents practical guidelines for the early detection of metabolic disorders in patients with infantile epileptic encephalopathies. In addition to anti-epileptic drugs, the authors propose to include a mandatory metabolic correction in the therapy complex for these patients.
About the authors
L. M. Kuzenkova
Scientific Centre of Children Health, Moscow, Russian Federation
Author for correspondence.
Email: kuzenkova@nczd.ru
доктор медицинских наук, профессор, руководитель отделения психоневрологии и психосоматической патологии Научного центра здоровья детей Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09 Russian Federation
M. R. Kremenchugskaya
Scientific Centre of Children Health, Moscow, Russian FederationSt. Luka's Institute of Child Neurology and Epilepsy, Moscow, Russian Federation
Email: markrem@nm.ru
кандидат медицинских наук, научный сотрудник отделения психоневрологии и психосоматической патологии Научного центра здоровья детей, невролог-консультант Института детской невро- логии и эпилепсии им. Святителя Луки Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09 Russian Federation
O. V. Globa
Scientific Centre of Children Health, Moscow, Russian Federation
Email: globa@nczd.ru
кандидат медицинских наук, старший научный сотрудник отделения психоневрологии и психосоматической патологии Научного центра здоровья детей Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09 Russian Federation
T. V. Podkletnova
Scientific Centre of Children Health, Moscow, Russian Federation
Email: tvp80@mail.ru
кандидат медицинских наук, научный сотрудник отделения психоневрологии и психосоматической патологии Научного центра здоровья детей Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09 Russian Federation
References
- Козлова С.И., Демикова Н.С. Наследственные синдромы и медико-генетическое консультирование. Атлас-справочник. 3-е изд. М. 2007. 448 с.
- Demars J., Gicquel C. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes. Clin. Genet. 2012; 81 (4): 350–361.
- Weksberg R., Shuman C., Beckwith J.B. Beckwith–Wiedemann syndrome. Eur. J. Hum. Genet. 2010; 18 (1): 8–14.
- Choufani S., Shuman C., Weksberg R. Beckwith–Wiedemann syndrome. Am. J. Med. Genet. C. Semin. Med. Genet. 2010; 15; 154 (3): 343–354.
- Мухин К.Ю., Петрухин А.С., Холин А.А. Эпилептические энцефалопатии и схожие синдромы у детей М. 2011. С. 95–156.
- Gibbs F.A., Gibbs E.L. Atlas of electroencephalography. The Epilepsy. Cambridge : Addison-Wesley. 1952. P. 346–358.
- Desguerre I., Pinton F., Nabbout R. et al. Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. Neuropediatrics. 2003; 34 (5): 265–269.
- Eisermann M.M., De La Raillere A., Dellatolas G. et al. Infantile spasms in Down syndromeeffects of delayed anti-convulsive treatment. Epilepsy Res. 2003; 55 (1–2): 21–27.
- Hancock E.C., Osborne J.P., Edwards S.W. Treatment of infantile spasms. Cochr.Database Syst. Rev. 2013; 5: 6.
- Camfield P., Camfield C., Lortie A., Darwish H. Infantile spasms in remission may reemerge as intractable epileptic spasms. Epilepsia. 2003; 44 (12): 1592–1595.
Supplementary files
